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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1952",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1950",
"results": [
{
"created": "2020-01-31T20:49:32.332466+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA2D3 as ready",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:49:32.321210+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna2d3 has been classified as Red List (Low Evidence).",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:49:24.200187+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA2D3 were set to ",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:48:48.176198+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA2D3 as Red List (low evidence)",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:48:48.166174+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna2d3 has been classified as Red List (Low Evidence).",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:47:43.015558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA2D3 as ready",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:47:43.010627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree no evidence for Mendelian gene-disease association.",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:47:42.958971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna2d3 has been classified as Red List (Low Evidence).",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:47:26.955176+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA2D3: Rating: RED; Mode of pathogenicity: None; Publications: 31275518, 22542183, 23375656; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:46:22.602696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA2D3 were set to ",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:46:20.355892+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ST14 was added\ngene: ST14 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ST14 were set to 17273967; 18843291; 18445049; 30982314\nPhenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400\nReview for gene: ST14 was set to GREEN\nAdded comment: >3 families with biallelic variants reported. \nSources: Expert list",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:45:51.687508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA2D3 as Red List (low evidence)",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:45:51.675838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna2d3 has been classified as Red List (Low Evidence).",
"entity_name": "CACNA2D3",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:42:28.558604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTA as ready",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:42:28.548452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csta has been classified as Green List (High Evidence).",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:42:14.565627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSTA were changed from to Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:41:52.199084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSTA were set to ",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:41:28.260132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSTA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:41:04.411346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944047, 23534700, 25400170; Phenotypes: Peeling skin syndrome 4 MIM#607936, exfoliative ichthyosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:40:05.286452+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTA as ready",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:40:05.275587+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csta has been classified as Green List (High Evidence).",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:39:58.778910+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSTA as Green List (high evidence)",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:39:58.755121+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csta has been classified as Green List (High Evidence).",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:38:57.322632+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDSN as ready",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:38:57.309819+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdsn has been classified as Green List (High Evidence).",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:38:52.432485+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDSN were changed from to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:38:19.616881+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDSN were set to ",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:37:41.271375+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:37:06.670497+11:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24794518, 18436651, 20691404, 21191406; Phenotypes: Peeling skin syndrome 1 MIM#270300, ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:36:19.118933+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDSN as ready",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:36:19.107994+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdsn has been classified as Green List (High Evidence).",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:36:09.545613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDSN were changed from to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:36:04.606722+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPINK5 was added\ngene: SPINK5 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPINK5 were set to 10712206; 15590704; 31977080\nPhenotypes for gene: SPINK5 were set to Netherton syndrome MIM#256500\nReview for gene: SPINK5 was set to GREEN\nAdded comment: Netherton syndrome is a severe autosomal recessive disorder characterised by congenital ichthyosis with defective cornification, a specific hair shaft defect ('bamboo hair'), and severe atopic manifestations. >3 families reported and an animal model recapitulating the phenotype. \nSources: Expert list",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:35:45.605064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDSN were set to ",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:35:21.114116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:35:00.923083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24794518, 18436651, 20691404, 21191406; Phenotypes: Peeling skin syndrome 1 MIM#270300, ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:33:37.374925+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDSN as ready",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:33:37.364079+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdsn has been classified as Green List (High Evidence).",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:33:23.585974+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDSN as Green List (high evidence)",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:33:23.562326+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdsn has been classified as Green List (High Evidence).",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:32:05.849919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASP14 as ready",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:32:05.838600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:31:50.518840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASP14 as Amber List (moderate evidence)",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:31:50.507926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:31:28.407619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASP14 was added\ngene: CASP14 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP14 were set to 27494380; 23014340; 17515931\nPhenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320\nReview for gene: CASP14 was set to AMBER\nAdded comment: The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features. \nSources: Expert Review",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:28:31.895657+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASP14 as ready",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:28:31.885299+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:28:04.459541+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASP14 as Amber List (moderate evidence)",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:28:04.448276+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:27:37.323518+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASP14 as Amber List (moderate evidence)",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:27:37.312810+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP14",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:26:33.387755+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPE as ready",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:26:33.377109+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipe has been classified as Green List (High Evidence).",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:26:16.232198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPE as ready",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:26:16.221625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipe has been classified as Green List (High Evidence).",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:25:02.251717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIPE as Green List (high evidence)",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:25:02.236692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipe has been classified as Green List (High Evidence).",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:24:11.547488+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIPE were changed from to Lipodystrophy, familial partial, type 6, 615980",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:23:44.954390+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIPE were set to ",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:23:14.677450+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:21:00.374626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH3A2 as ready",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:21:00.364385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:20:50.969761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:20:25.468966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH3A2 were set to ",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:20:00.668414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:19:37.576216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:19:07.304696+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC27A4 was added\ngene: SLC27A4 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC27A4 were set to 12697906; 19631310; 31168818\nPhenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome MIM#608649\nReview for gene: SLC27A4 was set to GREEN\nAdded comment: >3 families reported \nSources: Expert list",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:18:49.768355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH3A2 as ready",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:18:49.756434+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:18:42.363151+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:18:10.569341+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH3A2 were set to ",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:17:33.500525+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:16:56.004624+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:16:14.610721+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH3A2 as ready",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:16:14.600077+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:15:47.456393+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH3A2 as Green List (high evidence)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:15:47.432433+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:14:37.590629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYT1L as ready",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:14:37.580150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:14:28.356349+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD5 as ready",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:14:28.346119+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd5 has been classified as Green List (High Evidence).",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:14:14.763719+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD5 were changed from to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:13:41.386570+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABHD5 were set to ",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:13:05.750301+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:12:28.082905+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:11:49.302723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD5 as ready",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:11:49.292642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd5 has been classified as Green List (High Evidence).",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:11:36.528346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD5 were changed from to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:11:20.099667+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABHD5 were set to ",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:11:00.914195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:10:41.956745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erithroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:09:13.273233+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD5 as ready",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:09:13.259031+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd5 has been classified as Green List (High Evidence).",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:07:06.594639+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABHD5 as Green List (high evidence)",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:07:06.564085+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd5 has been classified as Green List (High Evidence).",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:05:13.780509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP6 as ready",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:05:13.769829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp6 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:05:03.178155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:04:47.578832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBGCP6 were set to ",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:04:28.218792+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SERPINB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476651; Phenotypes: Peeling skin syndrome 5 MIM#617115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINB8",
"entity_type": "gene"
}
]
}